ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1304G>A (p.Arg435His) (rs1060501879)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464366 SCV000547756 pathogenic Fanconi anemia 2019-02-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 435 of the FANCA protein (p.Arg435His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with Fanconi anemia (PMID: 19367192, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 408183). This variant has been reported to affect FANCA protein function (PMID: 29098742). This variant disrupts the p.Arg435 amino acid residue in FANCA. Other variant(s) that disrupt this residue have been observed in individuals with FANCA-related conditions (PMID: 12444097, 15523645, 11739169, 10090479), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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